10 Studies That Highlight the Importance of Rare Disease Research

When researchers study rare diseases, breakthroughs can be made that help patients. Revisit studies that are putting genetic puzzle pieces together to tackle these conditions.

5:00 AM

Author | Jordyn Imhoff

DNA graphic in white with rainbow colors behind

Rare Disease Day is celebrated across the globe to raise awareness amongst the general public and policymakers about rare diseases and how they impact patients' lives. The first Rare Disease Day was celebrated in 2008 on February 29 because of its 'rare' date and since then, occurs on the last day in February each year, a month with a 'rare' number of days.

Although 'rare' suggests not many people are affected with a condition, collectively, 300 million people around the world live with a rare disease and they face similar challenges. The barrier to an accurate diagnosis means patients may doctor hop and spend years getting a host of tests done because no one is familiar with the condition and can diagnose it. There's often frustration due to this lack of understanding from health care professionals, and living in the unknown.

Even with a diagnosis,
more than 90% of rare diseases are still without an FDA approved treatment, according to the National Organization for Rare Disorders.

Some rare diseases may cause a multitude of different health problems that keep children from going to school or being able to socialize with others in the same way their peers can. Similarly, rare diseases may affect physical appearance and make children self-conscious or have low self-esteem.

LISTEN UP: Add the new Michigan Medicine News Break to your Alexa-enabled device, or subscribe to our daily updates on iTunesGoogle Play and Stitcher

Michigan Medicine researchers are constantly working to better understand the mechanisms behind rare diseases. Education helps health care professionals make accurate diagnoses, create treatment methods and improve the quality of life for those that live with these conditions.

Here's a sampling of their research from the last year. 

  1. Systemic Scleroderma Treatments: Where Are We Now?
    A new and novel outcome measure is being used to determine effectiveness of new scleroderma treatments.

  2. Gene Therapy Treatment Targets Rare Mutation Tied to Blindness
    Advances in gene therapy are yielding new options for treating inherited retinal degenerations, giving specialists new tools — and new hope for patients and families.

  3. A Mission to Improve Cystic Fibrosis Treatment Across the Globe
    To reach patients in need, one doctor has developed a training program to improve testing and care available for those with the genetic disease, starting in the Middle East.

  1. Accelerating Children's Access to New Treatments for High Risk Brain Tumors
    Michigan Medicine joins an exclusive, global network that helps speed up the process of linking children with incurable brain cancer to promising clinical trials.

  2. A New Clue in the Mystery of ALS, Frontotemporal Dementia
    Michigan Medicine researchers identify a potential therapeutic target for neurodegenerative conditions using animal models.

  3. Drug Trial Seeking First Ever Treatment for Dangerous Side Effect of Prader-Willi Syndrome
    A worldwide research effort is underway for finding a treatment option for hyperphagia, the most common genetic cause of life threatening childhood obesity. 

  4. Arthritis Treatment Could Provide Relief for Lichen Planus Skin Rash
    It's often difficult to manage patients with this skin inflammation, but new research identifies a target that existing medications may be able to address.

  5. Approach Could Help in Treating Glioblastoma, Other Rare Cancers
    Michigan led research presents a new way of uncovering predictive biomarkers when data from large randomized trials aren't available.

  6. Sickle Cell Disease Could Be Treated by Turning Back the Clock
    Reactivating genes normally active before birth could prevent the harmful effects of this blood disorder with few treatment options.

  7. Registry Helps Move Aortic Dissection Care Forward
    Diagnosis, treatments and outcomes for acute aortic dissection have evolved, with an international registry revealing trends and the power of using data.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

To learn more about Rare Disease Day, visit the National Organization for Rare Disorders website.

 


More Articles About: Rounds Basic Science and Laboratory Research Arthritis Aortic Tear Brain Cancer Genetic Testing Gene Therapy Genetic Disorders Lou Gehrig's (ALS) CS Mott Children's Hospital Frankel Cardiovascular Center Kellogg Eye Center Rogel Cancer Center Von Voigtlander Women's Hospital Lab Tests Cystic Fibrosis Obesity & Weight Management Sickle Cell Anemia Cancer: Help, Diagnosis & Treatment All Research Topics
Health Lab word mark overlaying blue cells
Health Lab

Explore a variety of healthcare news & stories by visiting the Health Lab home page for more articles.

Media Contact Public Relations

Department of Communication at Michigan Medicine

[email protected]

734-764-2220

Stay Informed

Want top health & research news weekly? Sign up for Health Lab’s newsletters today!

Subscribe
Featured News & Stories Florescent image of a human ovarian follicle
Health Lab
Spatial atlas of the human ovary with cell-level resolution will bolster reproductive research
New map of the ovary provides a deeper understanding of how oocytes interact with the surrounding cells during the normal maturation process, and how the function of the follicles may break down in aging or fertility related diseases.
Illustration in red and pink hues of a teen girl embarrassed she doesn't have money in her wallet for period-related products
Health Lab
Despite stigma, many support making menstrual products more accessible, study suggests
Survey shows many teens and young adults support making menstrual products more accessible to fight "period poverty."
A CT scan of healthy lungs
Health Lab
Study reveals potential to reverse lung fibrosis using the body’s own healing technique
A recent U-M study uncovers a pathway utilized during normal wound healing that has the potential to reverse idiopathic pulmonary fibrosis.
Photo of a cluttered, messy garage
Health Lab
Chemicals stored in home garages linked to ALS risk
A Michigan Medicine study finds that storing chemicals in a garage at home may associate with an increased risk of ALS.
Blue image of a microscopic helix strand
Health Lab
Researchers discover urine based test to detect head and neck cancer
At-home test can detect tumor DNA fragments in urine samples, providing a non-invasive alternative to traditional blood-based biomarker tests
Dinero is back to being an active toddler following a kidney transplant
Health Lab
Formula prescription helps 2-year-old receive kidney transplant
Dinero's pediatric nephrology team developed a tailored formula to address his mineral deficiencies due to his chronic kidney disease, maintain nutritional health and avoid dialysis.